A family with three children affected with congenital polycystic kidneys, hepatic fibrosis, mental retardation, minor anomalies of the hands, and dysmorphic facial features is reported. All children progressed to chronic renal failure. Linkage to the locus for autosomal recessive polycystic kidney disease was excluded by haplotype analysis. The family is endogamic, and the affected siblings are of both sexes, which is in agreement with an autosomal recessive determination of this syndrome. A similar syndrome was reported in 1990 by Labrune et al. [J Pediatr Gastroenterol Nutr (1990) 10:540–543]. Our report provides further evidence for the etiological heterogeneity of polycystic kidney with hepatic fibrosis. The syndrome reported here should be considered in the differential diagnosis of the early manifestation of polycystic kidneys. Mental retardation and hand anomalies are the hallmarks for the differential diagnosis of this syndrome.
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We thank Prof. Klaus Zerres and Dr. Carsten Bergmann from the Aachen University of Technology for haplotype analysis of the ARPKD, Dr. Karel Vondrak for providing clinical data and Dr. Pavel Dvorak for technical support. Supported by grant VZ MZ CR 0006420301, VZ MSMT CR 0021620819 and IGA NR9457–3.
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Seeman, T., Malíková, M., Bláhová, K. et al. Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings. Pediatr Nephrol 24, 1409–1412 (2009). https://doi.org/10.1007/s00467-008-1049-x
- Autosomal recessive inheritance
- Facial dysmorphy
- Hand anomalies
- Hepatic fibrosis
- Mental retardation
- Polycystic kidneys
- Proximal implanted thumbs